Linked Data
dbSNP Id:
rs772541446
ExAC:
12:125453418 T / C
gnomAD v2:
12-125453418-T-C
gnomAD v3:
12-124968872-T-C
gnomAD v4:
12-124968872-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124968872T>C , CM000674.2:g.124968872T>C | GRCh38 |
| NC_000012.11:g.125453418T>C , CM000674.1:g.125453418T>C | GRCh37 |
| NC_000012.10:g.124019371T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.1288A>G MANE Select | ENSP00000311135.2:p.Ile430Val | |
| ENST00000544745.2:c.759A>G | ||
| ENST00000679875.1:n.1360A>G | ||
| ENST00000308736.6:c.1288A>G | ENSP00000311135.2:p.Ile430Val | |
| ENST00000539298.1:n.1388A>G | ||
| ENST00000544745.1:c.649A>G | ENSP00000439009.1:p.Ile217Val | |
| NM_032656.3:c.1288A>G | NP_116045.2:p.Ile430Val | |
| XM_005253590.2:c.1288A>G | XP_005253647.1:p.Ile430Val | |
| XM_011538597.1:c.1288A>G | XP_011536899.1:p.Ile430Val | |
| XM_011538598.1:c.1288A>G | XP_011536900.1:p.Ile430Val | |
| XM_011538599.1:c.1288A>G | XP_011536901.1:p.Ile430Val | |
| XM_011538600.1:c.1288A>G | XP_011536902.1:p.Ile430Val | |
| XM_005253590.3:c.1288A>G | XP_005253647.1:p.Ile430Val | |
| XM_011538598.2:c.1288A>G | XP_011536900.1:p.Ile430Val | |
| XM_011538600.2:c.1288A>G | XP_011536902.1:p.Ile430Val | |
| XR_001748819.1:n.1391A>G | ||
| XR_001748820.1:n.1391A>G | ||
| NM_032656.4:c.1288A>G MANE Select | NP_116045.2:p.Ile430Val |